Dystonia is a movement disorder characterized by sustained involuntary muscle contractions and abnormal postures of the trunk, neck, face, or extremities.
The involuntary movements are associated with simultaneous contraction of agonist and antagonist muscles, with unwanted "overflow" contraction of adjacent muscles.
In some cases, pain in the affected muscles can be a prominent feature.
Dystonia may improve with simple "sensory tricks" such as lightly touching the affected body part (geste antagoniste).
Can be generalized or focal, idiopathic (with no other neurologic abnormalities), inherited, or acquired.
Dopa-responsive dystonias, although rare, should always be considered if the dystonia is generalized, as levodopa is dramatically effective in these situations.
Treatment is symptomatic. Agents include anticholinergics, antispasmodics, and botulinum toxin. Deep brain stimulation may be used in severe, refractory cases. Physical therapy is recommended.
Dystonia is a movement disorder characterized by sustained involuntary contractions of agonist and antagonist muscles, often leading to repetitive twisting movements and abnormal postures of the trunk, neck, face, or extremities. It is often associated with unwanted "overflow" contraction of adjacent muscles.
History and exam
Key diagnostic factors
- simultaneous contraction of agonist and antagonist muscles
- muscle pain
- appearance or worsening of dystonia with action
- cervical torticollis
- hand spasms
- foot spasms
Other diagnostic factors
- twisting of the affected body part
- geste antagoniste (sensory trick)
- spread to another body part
- tremor, weakness, or spasticity
- Kayser-Fleischer rings on slit-lamp examination
- acute presentation (within 5 days of exposure to antidopaminergic agent)
- acute worsening of pre-existing generalized dystonia
- family history of dystonia
- repetitive activity of affected region
- birth injury and delayed development in childhood
- exposure to antidopaminergic agents
- genetic mutation
- Ashkenazi Jewish ethnicity
- structural lesion of the basal ganglia
- parkinsonian syndrome
1st investigations to order
- levodopa responsiveness
Investigations to consider
- cranial magnetic resonance imaging
- serum ceruloplasmin
- 24-hour urine copper
- TOR1A (also known as DYT1) gene testing
- GCH1 gene testing
acute dystonic reactions
focal dystonia: other than adult isolated foot
adult isolated foot dystonia
- Athetoid or spastic cerebral palsy
- Huntington disease (HD)
- Parkinson disease (PD) or atypical parkinsonism
- Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache
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